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Syndromic Retinopathy v0.64 TMEM107 Bryony Thompson Marked gene: TMEM107 as ready
Syndromic Retinopathy v0.64 TMEM107 Bryony Thompson Gene: tmem107 has been classified as Amber List (Moderate Evidence).
Syndromic Retinopathy v0.64 TMEM107 Bryony Thompson Classified gene: TMEM107 as Amber List (moderate evidence)
Syndromic Retinopathy v0.64 TMEM107 Bryony Thompson Gene: tmem107 has been classified as Amber List (Moderate Evidence).
Syndromic Retinopathy v0.63 TMEM107 Bryony Thompson gene: TMEM107 was added
gene: TMEM107 was added to Syndromic Retinopathy. Sources: Expert list
Mode of inheritance for gene: TMEM107 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM107 were set to 26595381
Phenotypes for gene: TMEM107 were set to Joubert syndrome 29 MIM#617562; Orofaciodigital syndrome XVI MIM#617563
Review for gene: TMEM107 was set to AMBER
Added comment: A set of twins and an unrelated case reported with retinopathy as a feature of the condition.
Sources: Expert list